Analysis ofASPMin an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory
Author:
Affiliation:
1. Department of Human Genetics; University of Chicago; Chicago IL USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference25 articles.
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2. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation;Roberts;J Med Genet,2002
3. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings;Woods;Am J Hum Genet,2005
4. Identification of microcephalin, a protein implicated in determining the size of the human brain;Jackson;Am J Hum Genet,2002
5. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter;Jackson;Am J Hum Genet,1998
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1. The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM;Frontiers in Neuroscience;2023-08-03
2. A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family;Genetic Testing and Molecular Biomarkers;2022-01-01
3. Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly;Clinical Dysmorphology;2021-10-22
4. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy;Molecular Genetics & Genomic Medicine;2021-08-17
5. International consensus recommendations on the diagnostic work-up for malformations of cortical development;Nature Reviews Neurology;2020-09-07
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